Liu Liu, Dizon Don, DiPetrillo Thomas A, Hart Jesse, Cheng Liang, Wang Yihong
Department of Pathology and Laboratory Medicine, Rhode Island Hospital and Lifespan Medical Center, Warren Alpert Medical School of Brown University, Providence, RI, USA.
Division of Medical Oncology, Rhode Island Hospital and Lifespan Medical Center, Warren Alpert Medical School of Brown University, Providence, RI, USA.
NPJ Precis Oncol. 2025 Apr 15;9(1):107. doi: 10.1038/s41698-025-00905-w.
Dermatofibrosarcoma protuberans (DFSP) is a rare soft tissue sarcoma with low potential for metastases. To date, only a few cases of DFSP in the breast have been reported, and none have reported comprehensive genetic signatures. We report, for the first time, the largest DFSP in the breast with multidisciplinary tumor board discussion and comprehensive molecular analysis. This DFSP is 18.5 cm with fibrosarcomatous transformation, distinct gene rearrangement translocation t(17;22) (q22;q13), COL1A1::PDGFB fusion, and subsequent segmental amplification of chromosomes 17q and 22q. The high-level of amplifications of genomic regions containing the COL1A1 and PDGFB genes (6 copies) compared to the reported DFSP cases (2-3 copies) supports the gene dosage effect correlated with aggressive behavior and high-grade tumor histology. This case highlights the importance of precise genetic alteration in the clinicopathological and phenotypic expression of DFSP with fibrosarcomatous transformation, and it helps guide clinical management and informs the role of targeted therapy.
隆突性皮肤纤维肉瘤（DFSP）是一种罕见的软组织肉瘤，转移潜能较低。迄今为止，仅有少数乳腺DFSP病例被报道，且均未报告全面的基因特征。我们首次报告了一例经多学科肿瘤专家会诊并进行全面分子分析的最大的乳腺DFSP。该DFSP大小为18.5厘米，伴有纤维肉瘤样转化，存在独特的基因重排易位t(17;22)(q22;q13)、COL1A1::PDGFB融合以及随后的17号和22号染色体节段性扩增。与已报道的DFSP病例（2 - 3个拷贝）相比，含有COL1A1和PDGFB基因的基因组区域高水平扩增（6个拷贝）支持了与侵袭性生物学行为和高级别肿瘤组织学相关的基因剂量效应。该病例突出了精确基因改变在伴有纤维肉瘤样转化的DFSP临床病理和表型表达中的重要性，并有助于指导临床管理以及明确靶向治疗的作用。
